Gyorgy Kosztolanyi
Pecs, BA, Hungary
Last Updated: 09/26/2026
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Found 15 publications
Maternal mosaicism underlies the inheritance of a rare germline AKT3 variant which is responsible for megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome in two Roma half-siblings.
Journal: Experimental and molecular pathology
Published: January 27, 2020
DISEASE BURDEN OP DUCHENNE MUSCULAR DYSTROPHY PATIENTS AND THEIR CAREGIVERS
Journal: Ideggyogyaszati szemle
Published: July 30, 2016
Kleefstra syndrome in Hungarian patients: additional symptoms besides the classic phenotype.
Journal: Molecular cytogenetics
Published: September 21, 2015
Phenotypic variability in a Hungarian patient with the 4q21 microdeletion syndrome.
Journal: Molecular cytogenetics
Published: November 17, 2014
Shift of focus in the financing of Hungarian drugs. Reimbursement for orphan drugs for treating rare diseases: financing of enzyme replacement therapy in Hungary
Journal: Orvosi hetilap
Published: October 27, 2014
Cystic fibrosis -- disease burden and health-related quality of life of patients and their caregivers: results of the European BURQOL-RD survey in Hungary
Journal: Orvosi hetilap
Published: October 13, 2014
Partial trisomy of the pericentromeric region of chromosome 5 in a girl with binder phenotype.
Journal: Cytogenetic and genome research
Published: September 29, 2014
It is time to take timing seriously in clinical genetics.
Journal: European journal of human genetics : EJHG
Published: July 08, 2014
Hungarian national plan and strategy for rare diseases
Journal: Orvosi hetilap
Published: February 26, 2014
Identifying rare genomic disorders with array comparative genomic hybridization in Hungary
Journal: Orvosi hetilap
Published: February 26, 2014
Deletion of 4q28.3-31.23 in the background of multiple malformations with pulmonary hypertension.
Journal: Molecular cytogenetics
Published: January 24, 2014
Last Updated: 09/26/2026